Overview

Location [1]
1q32.1
Pathway
DNA damage/repair
Synonyms [1]
MDMX, MRP1, HDMX, BMFS6

MDM4, p53 regulator (MDM4) is a gene that encodes a protein with a p53 binding domain to bind p53 and inhibit its activation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

Significance of MDM4 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Medulloblastoma +

Prostate Carcinoma +

Breast Carcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Endometrial Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Bladder Urothelial Carcinoma +

Cholangiocarcinoma +

Diffuse Glioma +

Diffuse Large B-Cell Lymphoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Esophageal Carcinoma +

Extrarenal Rhabdoid Tumor +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Glioblastoma +

Hepatoblastoma +

High Grade Ovarian Serous Adenocarcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Lymphoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Glioma +

Malignant Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mixed Phenotype Acute Leukemia +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Pineoblastoma +

Retinoblastoma +

Rhabdoid Tumor +

Rhabdoid Tumor Of The Kidney +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Urothelial Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.